Congenital disorder of glycosylation type Ia (CDG-Ia): Phenotypic spectrum of the R141H/F119L genotype

Archives of Disease in Childhood

Volumn 85, Issue 3, 2001, Pages 236-239

  Kjaergaard, S ^a   Schwartz, M ^a   Skovby, F ^a  

^a University of Copenhagen   (Denmark)

Author keywords

Congenital disorder of glycosylation type Ia; Phenotype; Phosphomannomutase deficiency

Indexed keywords

DNA; PHOSPHOMANNOMUTASE;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; DENMARK; DEVELOPMENTAL DISORDER; DISEASE COURSE; FAILURE TO THRIVE; FEMALE; GENETIC DISORDER; GENOTYPE; HUMAN; INFANT; MALE; METABOLIC DISORDER; PHENOTYPE; PRIORITY JOURNAL; STROKE;

ADOLESCENT; ADULT; ATAXIA; ATROPHY; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CEPHALOMETRY; CEREBELLUM; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FACIES; FAILURE TO THRIVE; FEMALE; GENOTYPE; GLYCOSYLATION; GROWTH DISORDERS; HUMANS; INFANT; INFANT, NEWBORN; LIVER FUNCTION TESTS; MALE; PHENOTYPE; PROGNOSIS; SEIZURES;

EID: 0034821669     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.85.3.236     Document Type: Article

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